A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752067



Internal ID12985619
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:32114037..32149137hg38UCSC Ensembl
Innerchr5:32114143..32149243hg19UCSC Ensembl
Innerchr5:32149900..32185000hg18UCSC Ensembl
Innerchr5:32149900..32185000hg17UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg3835101
hg1935101
hg1835101
hg1735101
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv202e55
Supporting Variantsessv6981307, essv6985538
SamplesBEC_382
Known GenesGOLPH3
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2752067
Frequency
Sample Size771
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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